Gene: ENPP1

Alternate names for this Gene: ARHR2|COLED|M6S1|NPP1|NPPS|PC-1|PCA1|PDNP1

Gene Summary: This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: ectonucleotide pyrophosphatase/phosphodiesterase 1

Type of Gene: protein-coding

rs121918024 in ENPP1 gene and ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 PMID 20016754 2008 Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

PMID 22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

PMID 15940697 2005 Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

PMID 27467858 2016 Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

PMID 15605415 2005 The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

PMID 23430823 2011 Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.

PMID 12881724 2003 Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

PMID 16315058 2006 Generalized arterial calcification of infancy: two siblings with prolonged survival.

rs374270497 in ENPP1 gene and Arterial calcification of infancy PMID 20016754 2008 Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

rs62424521 in ENPP1 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs397518475 in ENPP1 gene and Cole disease PMID 28964717 2018 ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

PMID 24075184 2013 Cole Disease Results from Mutations in ENPP1.

PMID 26617416 2016 Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.

rs121908248 in ENPP1 gene and Hypophosphatemic Rickets, Autosomal Recessive, 2 PMID 25741938 2015 Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

PMID 20137772 2010 Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

PMID 20137773 2010 Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.